Incidental Mutation 'IGL01444:Timm10'
ID 84368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm10
Ensembl Gene ENSMUSG00000027076
Gene Name translocase of inner mitochondrial membrane 10
Synonyms Timm13a, Tim13
Accession Numbers
Essential gene? Probably essential (E-score: 0.973) question?
Stock # IGL01444
Quality Score
Status
Chromosome 2
Chromosomal Location 84657365-84660557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84660208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 49 (V49E)
Ref Sequence ENSEMBL: ENSMUSP00000107258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028470] [ENSMUST00000111631]
AlphaFold P62073
Predicted Effect probably damaging
Transcript: ENSMUST00000028470
AA Change: V49E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028470
Gene: ENSMUSG00000027076
AA Change: V49E

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 6 72 3.8e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111631
AA Change: V49E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107258
Gene: ENSMUSG00000027076
AA Change: V49E

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 7 71 9.3e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dhx32 T C 7: 133,350,706 (GRCm39) I121M possibly damaging Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Eps8l2 T C 7: 140,941,288 (GRCm39) probably benign Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Gls2 C A 10: 128,037,216 (GRCm39) N252K probably damaging Het
Haus2 G A 2: 120,446,423 (GRCm39) R115K probably benign Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Or6c206 T A 10: 129,097,204 (GRCm39) C125S probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Timm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4590:Timm10 UTSW 2 84,657,992 (GRCm39) missense possibly damaging 0.49
R4896:Timm10 UTSW 2 84,660,192 (GRCm39) missense possibly damaging 0.89
R7241:Timm10 UTSW 2 84,660,333 (GRCm39) makesense probably null
Z1176:Timm10 UTSW 2 84,660,219 (GRCm39) nonsense probably null
Z1177:Timm10 UTSW 2 84,660,162 (GRCm39) missense possibly damaging 0.67
Posted On 2013-11-11